日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Neoadjuvant pembrolizumab plus chemotherapy in older patients with early-stage triple-negative breast cancer: real-world insights from neo-real/GBECAM-0123

新辅助帕博利珠单抗联合化疗治疗老年早期三阴性乳腺癌患者:来自 neo-real/GBECAM-0123 研究的真实世界见解

Gouveia, Mariana Carvalho; Barroso-Sousa, Romualdo; Lapuchesky, Laura; Testa, Laura; Tavares, Monique Celeste; Balint, Flávia Cavalcanti; Dos Anjos, Carlos Henrique; Gagliato, Débora de Melo; de Brito, Mayana Lopes; Colucci, Giuliana; Assad-Suzuki, Daniele; Rosa, Daniela Dornelles; Gomes, Noele de Jesus Barros; Nunes, Natalia Cristina Cardoso; de Sousa, Isadora Martins; Andrade, Matheus de Oliveira; Madasi, Fernanda; Bines, Jose; Savignano, Mariana; Ferreira, Rafael Dal Ponte; Santos, Candice Lima; Tavares, Maira; Monteiro, Mariana Ribeiro; Souza, Zenaide Silva de; Gomes, Ana Maria Ulbricht; Zucchetti, Bruna M; Ferrari, Anezka; Monteiro, Maria Marcela Fernandes; Signorini, Poliana Albuquerque; Sanches, Solange; Hoff, Paulo M; Paletta, Claudio; Estevez-Diz, Maria Del Pilar; Bonadio, Renata Colombo

Effects of Caffeic Acid Supplementation on Human Sperm Against In Vitro-Induced Oxidative Stress: Nrf2 Molecular Pathway

咖啡酸补充剂对体外诱导的人类精子氧化应激的影响:Nrf2分子通路

Liguori, Laura; Signorini, Cinzia; Collodel, Giulia; Marcucci, Caterina; Moretti, Elena

Cytokine and Endothelial Activation Patterns Related to Severe and Non-Severe Respiratory Viral Infections

与重症和非重症呼吸道病毒感染相关的细胞因子和内皮细胞活化模式

Ferrarese, Roberto; Boutahar, Sara; Genoni, Angelo Paolo; Arcari, Gabriele; Zambon, Gaia; Dolci, Maria; Perego, Federica; D'alessandro, Sara; Delbue, Serena; Mancini, Nicasio; Signorini, Lucia; Novazzi, Federica

Detection and Characterization of Thermotolerant Campylobacter Resistant to Antibiotics of Priority Use in Humans Present in Broiler Slaughterhouses and Retail Markets

对肉鸡屠宰场和零售市场中存在的对人类优先使用的抗生素具有耐药性的耐热弯曲杆菌进行检测和鉴定

Lencina, Florencia Aylen; Olivero, Carolina Raquel; Zimmermann, Jorge Alberto; Stegmayer, María Ángeles; Sirini, Noelí; Frizzo, Laureano Sebastián; Soto, Lorena Paola; Signorini, Marcelo Lisandro; Zbrun, María Virginia

Targeting peptidyl-arginine deiminase 4 suppresses SARS-CoV-2 replication and modulates the inflammatory response.

靶向肽基精氨酸脱亚胺酶 4 可抑制 SARS-CoV-2 复制并调节炎症反应。

Pasquero Selina, Penna Alessandro, Signorini Lucia, Villani Salvatore, Gugliesi Francesca, Caneparo Valeria, Favero Francesco, Camille Webb, Green Robert M, Frasson Ilaria, Tosi Anna, Genova Beatrice, Pietà Anna Dalla, Verin Ranieri, Tomasoni Sofia, Del Grosso Erika, Delbue Serena, Richter Sara N, Thompson Paul R, Rosato Antonio, De Andrea Marco

Ecotoxicological and behavioural responses of aquatic model organisms to the MosChito raft bioinsecticide delivery system

水生模式生物对 MosChito 漂浮式生物杀虫剂输送系统的生态毒理学和行为学反应

Negri, Agata; Nigro, Lara; Signorini, Silvia Giorgia; Locarno, Silvia; Diana, Alberto; Caccia, Silvia; Gabrieli, Paolo; Binelli, Andrea; Del Giacco, Luca; Bandi, Claudio; Della Torre, Camilla; Epis, Sara

Stratification of Pro-Atherogenic Phenotypes in Prediabetes Using Machine Learning

利用机器学习对糖尿病前期患者的促动脉粥样硬化表型进行分层

Signorini, Liana; Volanski, Waldemar; Prado, Ademir Luiz do; Valdameri, Glaucio; Anghebem, Mauren Isfer; Moure, Vivian Rotuno; Sari, Marcel Henrique Marcondes; Picheth, Geraldo; Rego, Fabiane Gomes de Moraes

Predicting Intrapartum Acidemia: A Review of Approaches Based on Fetal Heart Rate

预测产时酸中毒:基于胎心率的方法综述

Varisco, Gabriele; Steyde, Giulio; Peri, Elisabetta; Hoogendoorn, Iris; Signorini, Maria G; van Laar, Judith O E H; Mischi, Massimo; van der Hout-van der Jagt, Marieke B